familial erythrocytosis 4

A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21.

Signs and symptoms

• Increased circulating hemoglobin concentration
• Increased hematocrit
• Deep venous thrombosis
• Elevated circulating erythropoietin concentration
• Polycythemia
• Pruritus
• Mesenteric venous thrombosis

Also known as: ECYT4